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NM_014629.4(ARHGEF10):c.121G>T (p.Glu41Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 5, 2021)
Last evaluated:
Feb 21, 2018
Accession:
VCV001031837.1
Variation ID:
1031837
Description:
single nucleotide variant
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NM_014629.4(ARHGEF10):c.121G>T (p.Glu41Ter)

Allele ID
1020474
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1858043 (GRCh38) GRCh38 UCSC
8: 1806209 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.1806209G>T
NC_000008.11:g.1858043G>T
NM_014629.4:c.121G>T MANE Select NP_055444.2:p.Glu41Ter nonsense
... more HGVS
Protein change
E65*, E41*
Other names
-
Canonical SPDI
NC_000008.11:1858042:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 21, 2018 RCV001333768.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARHGEF10 - - GRCh38
GRCh38
GRCh37
147 284

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 21, 2018)
criteria provided, single submitter
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: maternal
Baylor Genetics
Accession: SCV001526445.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Mar 28, 2021